The Mitochondrial T16189C Polymorphism Is Associated with Coronary Artery Disease in Middle European Populations

• Published in: PloS one Vol. 6; no. 1; p. e16455
• Main Authors: Mueller, Edith E., Eder, Waltraud, Ebner, Sabine, Schwaiger, Eva, Santic, Danijela, Kreindl, Tanja, Stanger, Olaf, Paulweber, Bernhard, Iglseder, Bernhard, Oberkofler, Hannes, Maier, Richard, Mayr, Johannes A., Krempler, Franz, Weitgasser, Raimund, Patsch, Wolfgang, Sperl, Wolfgang, Kofler, Barbara
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 26.01.2011; Public Library of Science (PLoS)
• Subjects: Age related diseases; Analysis; Apoptosis; Biology; Birth weight; Body mass; Body mass index; Body size; Cardiovascular disease; Case-Control Studies; Chi-square test; Coronary artery; Coronary artery disease; Coronary Artery Disease - genetics; Coronary heart disease; Coronary vessels; Deoxyribonucleic acid; Diabetes; Diabetes mellitus; Diabetes Mellitus, Type 2 - genetics; DNA; DNA damage; DNA sequencing; DNA, Mitochondrial - genetics; Europe - epidemiology; European Continental Ancestry Group - genetics; Gene expression; Gene sequencing; Genetic aspects; Genetic polymorphisms; Genetic Predisposition to Disease; Genomes; Genomics; Heart diseases; Heart failure; Humans; Insulin resistance; Internal medicine; Laboratories; Medical research; Medicine; Metabolic disorders; Mitochondria; Mitochondrial DNA; Mutation; Patients; Pediatrics; Polymorphism; Polymorphism, Single Nucleotide; Prostate cancer; Type 2 diabetes; Europe
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0016455

The pivotal role of mitochondria in energy production and free radical generation suggests that the mitochondrial genome could have an important influence on the expression of multifactorial age related diseases. Substitution of T to C at nucleotide position 16189 in the hypervariable D-loop of the control region (CR) of mitochondrial DNA (mtDNA) has attracted research interest because of its suspected association with various multifactorial diseases. The aim of the present study was to compare the frequency of this polymorphism in the CR of mtDNA in patients with coronary artery disease (CAD, n = 482) and type 2 diabetes mellitus (T2DM, n = 505) from two study centers, with healthy individuals (n = 1481) of Middle European descent in Austria. CR polymorphisms and the nine major European haplogroups were identified by DNA sequencing and primer extension analysis, respectively. Frequencies and Odds Ratios for the association between cases and controls were calculated. Compared to healthy controls, the prevalence of T16189C was significantly higher in patients with CAD (11.8% vs 21.6%), as well as in patients with T2DM (11.8% vs 19.4%). The association of CAD, but not the one of T2DM, with T16189C remained highly significant after correction for age, sex and body mass index (BMI) and was independent of the two study centers. Our results show for the first time a significant association of T16189C with CAD in a Middle European population. As reported in other studies, in patients with T2DM an association with T16189C in individuals of European decent remains questionable.